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Carnitine deficiency in pregnancy
Christopher T Donnelly1, Afshan B Hameed, Jose E Abdenur
1Department of Obstetrics and Gynecology, University of California, Irvine, California 92868, USA.
Obstetrics and Gynecology
|August 2, 2007
Summary
Carnitine deficiency can cause metabolic crises. Exogenous carnitine supplementation is effective for treating carnitine deficiency during pregnancy, especially for neonates.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Carnitine deficiency is a metabolic disorder linked to high energy demand and stress.
- It is characterized by low blood carnitine levels and impaired carnitine transport in fibroblasts.
- Mutations in the OCTN2 gene are commonly associated with this condition.
Observation:
- This case report details the management of a pregnant patient with carnitine deficiency.
- The patient exhibited reduced carnitine transport in fibroblasts but lacked OCTN2 gene mutations.
Findings:
- Carnitine deficiency can be successfully managed with exogenous carnitine during pregnancy.
- This treatment is crucial as carnitine levels naturally decline in pregnant individuals.
Implications:
- Exogenous carnitine is vital for pregnant women with carnitine deficiency and their neonates.
- This highlights the importance of monitoring and managing carnitine levels during pregnancy.
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